Canonical Allele Identifier: CA3499117

Gene: SH3TC2

Linked Data

• ClinVar Variation Id: 351912
• ClinVar RCV Id: RCV000293064 ; RCV000349658 ; RCV001094981 ; RCV001173887
• dbSNP Id: rs186864272
• ExAC: 5:148407481 C / T
• gnomAD v2: 5-148407481-C-T
• gnomAD v3: 5-149027918-C-T
• gnomAD v4: 5-149027918-C-T
• MyVariant Identifiers: chr5:g.148407481C>T (hg19) ; chr5:g.149027918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.149027918C>T , CM000667.2:g.149027918C>T	GRCh38
NC_000005.9:g.148407481C>T , CM000667.1:g.148407481C>T	GRCh37
NC_000005.8:g.148387674C>T	NCBI36
NG_007947.2:g.40257G>A , LRG_269:g.40257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502274.2:c.1710G>A
ENST00000515425.6:c.1814G>A MANE Select	ENSP00000423660.1:p.Arg605His
ENST00000675793.1:c.*1098G>A	ENSP00000502039.1:n.*1098G>A
ENST00000676056.1:c.*1324G>A	ENSP00000501827.1:n.*1324G>A
ENST00000323829.9:c.*1202G>A	ENSP00000313025.5:n.*1202G>A
ENST00000504517.5:c.1344G>A	ENSP00000421779.1:n.1344G>A
ENST00000504690.5:c.1814G>A	ENSP00000425627.1:p.Arg605His
ENST00000510779.1:c.864G>A
ENST00000511307.5:c.*1594G>A	ENSP00000421420.1:n.*1594G>A
ENST00000512049.5:c.1793G>A	ENSP00000421860.1:p.Arg598His
ENST00000513604.5:c.*1202G>A	ENSP00000423111.1:n.*1202G>A
ENST00000515425.5:c.1814G>A	ENSP00000423660.1:p.Arg605His
NM_024577.3:c.1814G>A , LRG_269t1:c.1814G>A	NP_078853.2:p.Arg605His
NM_024577.4:c.1814G>A MANE Select	NP_078853.2:p.Arg605His